Danon病心脏受累表现

Cardiac manifestations of patients with Danon disease

目的:分析Danon病患者心脏受累的临床表现,提高心内科医生对该病的认识和诊断。方法:入选5例基因确诊的Danon病患者,分析其基本情况、心脏相关的临床症状、心肌标志物指标、心电图、超声心动图和心脏磁共振结果等资料。结果:5例患者中男2例,平均年龄18岁;女3例,平均年龄35岁。全部患者均有心脏受累,其中2例男性患者出现活动时胸闷、气促、黑矇等心脏相关症状;3例女性患者无症状。心电图显示左室高电压、宽大畸形QRS波和ST-T改变,2例(40%)患者有预激综合征。超声心动图示:心室肥厚,最大室壁厚度平均20mm,肥厚梗阻性心肌病患者常合并二尖瓣关闭不全、SAM征阳性。心肌标志物:部分患者肌钙蛋白I和肌酸激酶同工酶升高。心脏磁共振检查显示:未见心肌灌注缺损和延迟,男性患者心室多部位有较大面积延迟强化信号。随访6年发现男性患者心脏病变进展快,心脏逐渐扩大,由肥厚期向扩张期发展;女性患者无明显变化。结论:Danon病均有心脏受累,主要表现为肥厚型心肌病;心电图多表现为预激;心脏受累存在性别差异,男性心脏受累发病早,进展快,心肌受损严重,大量心肌纤维化;女性心脏受累发病晚,症状轻,进展慢。

Objective：To evaluate the cardiac manifestations of patients with Danon disease.Method：Five patients with genetically confirmed Danon disease were retrospectively studied.The general ethic information,main cardiac symptoms,myocardial markers,ECG,ultracardiographic and cardiovascular magnetic resonance findings were detected and recorded for all the patients.Result：All 5patients including 2males and 3females had cardiac manifestations.Two males（mean age 18years）had cardiac symptoms with chest distress,short of breath and presyncope on exertion,and three females（average age 35years）were asymptomatic.ECG demonstrated abnormally high voltage in precordial leads,bizarre QRS waves,ST-T change,and 2patients（40%）had ventricular preexcitation.Echocardiography showed left ventricular hypertrophy,the mean maximum wall thickness was 20 mm,and mitral regurgitation,systolic anterior motion of the mitral valve in patients with hypertrophic obstructive cardiomyopathy.The myocardial markers of troponin I and CK-MB were elevated in some patients.Cardiac-MRI revealed that there was normal in gadolinium myocardial perfusion,but the region of gadolinium delayed enhancement image was more extensively in males.During the 6years follow-up,the symptoms of the male patients rapidly developed with the evolution of the hypertrophic into dilated cardiomyopathy,and all female patients had no obvious change.Conclusion：Danon disease have cardiac manifestations and mainly presented hypertrophic cardiomyopathy.ECG often shows the ventricular preexcitation.The cardiac manifestations have gender differences：the male patients occurre early with severe symptoms,and progress quickly compare with the female patients.